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Journal Abstract Search

116 related items for PubMed ID: 12013981

  • 1. [Carnitine acylcarnitine translocase deficiency].
    Kimura M, Yamaguchi S.
    Nihon Rinsho; 2002 Apr; 60 Suppl 4():714-6. PubMed ID: 12013981
    [No Abstract] [Full Text] [Related]

  • 2. [Mitochondrial carnitine acylcarnitine translocase].
    Kimura M, Yamaguchi S.
    Nihon Rinsho; 2002 Apr; 60 Suppl 4():85-7. PubMed ID: 12014004
    [No Abstract] [Full Text] [Related]

  • 3. Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.
    Stanley CA, Hale DE, Berry GT, Deleeuw S, Boxer J, Bonnefont JP.
    N Engl J Med; 1992 Jul 02; 327(1):19-23. PubMed ID: 1598097
    [No Abstract] [Full Text] [Related]

  • 4. Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.
    Rubio-Gozalbo ME, Bakker JA, Waterham HR, Wanders RJ.
    Mol Aspects Med; 2004 Jul 02; 25(5-6):521-32. PubMed ID: 15363639
    [Abstract] [Full Text] [Related]

  • 5. Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency.
    Ogawa A, Yamamoto S, Kanazawa M, Takayanagi M, Hasegawa S, Kohno Y.
    J Hum Genet; 2000 Jul 02; 45(1):52-5. PubMed ID: 10697964
    [Abstract] [Full Text] [Related]

  • 6. Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death.
    Chalmers RA, Stanley CA, English N, Wigglesworth JS.
    J Pediatr; 1997 Aug 02; 131(2):220-5. PubMed ID: 9290607
    [Abstract] [Full Text] [Related]

  • 7. Fatty acid beta-oxidation in peroxisomes and mitochondria: the first, unequivocal evidence for the involvement of carnitine in shuttling propionyl-CoA from peroxisomes to mitochondria.
    Jakobs BS, Wanders RJ.
    Biochem Biophys Res Commun; 1995 Aug 24; 213(3):1035-41. PubMed ID: 7654220
    [Abstract] [Full Text] [Related]

  • 8. [Carnitine acylcarnitine translocase deficiency].
    Yorifuji S.
    Ryoikibetsu Shokogun Shirizu; 2001 Aug 24; (36):57-9. PubMed ID: 11596450
    [No Abstract] [Full Text] [Related]

  • 9. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
    Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F.
    Hum Mutat; 2004 Oct 24; 24(4):312-20. PubMed ID: 15365988
    [Abstract] [Full Text] [Related]

  • 10. Evidence for a short-chain carnitine-acylcarnitine translocase in mitochondria specifically related to the metabolism of branched-chain amino acids.
    Roe DS, Roe CR, Brivet M, Sweetman L.
    Mol Genet Metab; 2000 Jan 24; 69(1):69-75. PubMed ID: 10655160
    [Abstract] [Full Text] [Related]

  • 11. Impaired peroxisomal fatty acid oxidation in human skin fibroblasts with a mitochondrial acylcarnitine/carnitine translocase deficiency.
    Jakobs BS, Wanders RJ.
    J Inherit Metab Dis; 1996 Jan 24; 19(2):185-7. PubMed ID: 8739961
    [No Abstract] [Full Text] [Related]

  • 12. Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.
    Pande SV, Brivet M, Slama A, Demaugre F, Aufrant C, Saudubray JM.
    J Clin Invest; 1993 Mar 24; 91(3):1247-52. PubMed ID: 8450053
    [Abstract] [Full Text] [Related]

  • 13. [Carnitine/acylcarnitine translocase deficiency].
    Yorifuji S.
    Ryoikibetsu Shokogun Shirizu; 1998 Mar 24; (18 Pt 1):403-4. PubMed ID: 9590083
    [No Abstract] [Full Text] [Related]

  • 14. Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis.
    Brivet M, Slama A, Ogier H, Boutron A, Demaugre F, Saudubray JM, Lemonnier A.
    J Inherit Metab Dis; 1994 Mar 24; 17(3):271-4. PubMed ID: 7807931
    [No Abstract] [Full Text] [Related]

  • 15. Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.
    Vatanavicharn N, Yamada K, Aoyama Y, Fukao T, Densupsoontorn N, Jirapinyo P, Sathienkijkanchai A, Yamaguchi S, Wasant P.
    Brain Dev; 2015 Aug 24; 37(7):698-703. PubMed ID: 25459972
    [Abstract] [Full Text] [Related]

  • 16. Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family.
    Yang BZ, Mallory JM, Roe DS, Brivet M, Strobel GD, Jones KM, Ding JH, Roe CR.
    Mol Genet Metab; 2001 May 24; 73(1):64-70. PubMed ID: 11350184
    [Abstract] [Full Text] [Related]

  • 17. Novel localization of OCTN1, an organic cation/carnitine transporter, to mammalian mitochondria.
    Lamhonwah AM, Tein I.
    Biochem Biophys Res Commun; 2006 Jul 14; 345(4):1315-25. PubMed ID: 16729965
    [Abstract] [Full Text] [Related]

  • 18. Prospective treatment in carnitine-acylcarnitine translocase deficiency.
    Pierre G, Macdonald A, Gray G, Hendriksz C, Preece MA, Chakrapani A.
    J Inherit Metab Dis; 2007 Oct 14; 30(5):815. PubMed ID: 17508264
    [Abstract] [Full Text] [Related]

  • 19. The role of carnitine in intracellular metabolism.
    Bremer J.
    J Clin Chem Clin Biochem; 1990 May 14; 28(5):297-301. PubMed ID: 2199593
    [Abstract] [Full Text] [Related]

  • 20. [Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G].
    Fan X, Xie BB, Zhang Q, Yi S, Geng GX, Yang Q, Luo JS, Wang J, Li C, Chen SK, Shen YP.
    Zhonghua Er Ke Za Zhi; 2018 Jul 02; 56(7):545-549. PubMed ID: 29996190
    [Abstract] [Full Text] [Related]

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